Canonical Allele Identifier: CA015718

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42379
• ClinVar RCV Id: RCV000035221
• dbSNP Id: rs397515820
• MyVariant Identifiers: chr15:g.48752488G>A (hg19) ; chr15:g.48460291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48460291G>A , CM000677.2:g.48460291G>A	GRCh38
NC_000015.9:g.48752488G>A , CM000677.1:g.48752488G>A	GRCh37
NC_000015.8:g.46539780G>A	NCBI36
NG_008805.2:g.190498C>T , LRG_778:g.190498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5251C>T	ENSP00000453958.2:p.Gln1751Ter
ENST00000674301.2:c.5251C>T	ENSP00000501333.2:p.Gln1751Ter
ENST00000684448.1:n.3925C>T
ENST00000316623.10:c.5251C>T MANE Select	ENSP00000325527.5:p.Gln1751Ter
ENST00000674301.1:c.250C>T	ENSP00000501333.1:p.Gln84Ter
ENST00000316623.9:c.5251C>T	ENSP00000325527.5:p.Gln1751Ter
ENST00000537463.6:c.*1014C>T	ENSP00000440294.2:n.*1014C>T
ENST00000559133.5:c.558C>T
NM_000138.4:c.5251C>T , LRG_778t1:c.5251C>T	NP_000129.3:p.Gln1751Ter
NM_000138.5:c.5251C>T MANE Select	NP_000129.3:p.Gln1751Ter